Issue #25 – Sleep Apnea and Individuals with Down Syndrome

Posted on Posted in Articles, Sleep Apnea

Sleep Apnea and Individuals with Down Syndrome

Haviva Veler, M.D.

Director, Pediatric Sleep and Breathing Disorders Center
and Associate Professor of Clinical Pediatrics
Weill Cornell Medicine
Associate Attending Pediatrician
New York-Presbyterian Komansky Children’s Hospital at
Weill Cornell Medical Center

Is OSA common in patients with DS? Yes.

Childhood prevalence of OSA is around 50–100%, with this prevalence nearing 100% in adulthood. In a recent study of a large group of children with DS, 66% were found to have OSA on a sleep study (also called polysomnogram or PSG) and about half of these children presented with severe disease.

Can OSA be diagnosed based on signs and symptoms alone? Not always.

Sleep history is helpful in identifying children with DS with OSA. Symptoms may include: snoring, gasping, choking during sleep; breathing through an open mouth; sleeping in a seated position or with the neck hyper-extended; night sweats; restless sleep, witnessed apnea; and reoccurrence of bedwetting after a period of staying dry. Children with OSA may also have daytime
symptoms including hyperactivity, emotional difficulties, decreased academic performance, and attention deficit.

However, many times OSA can be present in children with DS with no symptoms. Therefore, in 2011 the American Academy of Pediatrics began recommending routine PSG for all children with DS by 4 years of age, regardless of symptom history.

Is polysomnography required to diagnose OSA in patients with DS? Yes.

PSG remains the gold standard for the diagnosis of OSA in patients with DS. As discussed earlier, typical signs and symptoms are not always present to make a formal diagnosis. Other modalities such as overnight oxygen monitoring have shown poor sensitivity.

Are children with DS at risk for other sleep-related breathing disorders besides OSA? Yes

There is increased prevalence of other sleep related breathing disorders in DS. Disorders like: Central sleep apnea – is seen in younger children with DS, likely due to low muscle tone and
immature respiratory control.

Hypoventilation – present in over 22% of children, with elevated levels of carbon dioxide and related to BMI.

Sleep-related hypoxemia – likely due to lower lung capacity, pulmonary hypertension, lung injury from recurrent pneumonia and/or aspiration, or interstitial lung disease.

Does untreated OSA lead to significant morbidity in patients with DS? Yes

Complications of OSA are potentially far reaching, including cardiovascular, neurocognitive, metabolic, psychiatric, quality of life, and mortality. The most severe include pulmonary hypertension and right sided heart failure. The most commonly seen are the neurocognitive deficits including deficits in short-term and long-term memory, language impairment, and visual perception skills, diminished executive as well as early-onset Alzheimer’s disease. Confirmed OSA was associated with a verbal IQ that was 9 points lower compared to those without OSA. This verbal IQ difference likely represents a functional impairment in everyday language use for these children at lower baseline cognitive levels, making intervention even more important.

Is adenotonsillectomy curative for OSA in patients with DS? Sometimes

In otherwise healthy children adenotonsillectomy can cure OSA in up to 80% of cases. Unfortunately, this level of success has not been replicated in the DS population. Likely because there are multiple factors causing the sleep apnea, from upper airway obstruction due to midface hypoplasia, lingual tonsil hypertrophy, and large tongue, to obesity and hypotonia. Therefore, addressing only one of those factors is less likely to result in cure.

Recent data have shown that between 50% and 75% of patients with OSA and DS will have clinically significant residual disease postoperatively. Although this information may be somewhat discouraging, it should be noted that most children with DS who undergo adenotonsillectomy for OSA still demonstrate substantial improvement in respiratory parameters on PSG, even if they
do not achieve cure.

Is adenotonsillectomy safe in children with DS? Yes (in the right setting)

Adenotonsillectomy was shown to be safe in children with DS, when the appropriate measures of addressing other medical conditions, and close monitoring after surgery, is practiced.

Are treatment options available for children with DS who have residual OSA status post Adenotonsillectomy? Yes

1. CPAP – noninvasive and very effective option for treatment of OSA. Nightly users of CPAP have shown significant improvements in daytime sleepiness, depression, and cognitive function. However, compliance issues are frequently encountered. Fortunately, compliance tends to be a greater issue when beginning therapy, and consistent usage can often be achieved with time.

2. Surgery – Because patients with DS frequently have multiple sites of upper airway obstruction, additional surgical intervention is sometimes beneficial. Tongue base reduction, lingual tonsillectomy, and nasal turbinate surgery are some of the more common surgical procedures performed for persistent OSA. More invasive procedures such as uvulopalatopharyngoplasty (UPPP)
and midface advancement may also be pursued. To determine which procedure(s) will be of greatest benefit, drug-induced sleep endoscopy (DISE) is often performed by ear nose and throat (ENT) physician.

3. Medical treatment – Intranasal steroids and leukotriene receptor antagonists have shown efficacy in milder forms of OSA.

4. Rapid maxillary expansion (RME) has been shown to significantly increase upper airway volume in patients with DS and provide long-term benefits in adolescents with isolated maxillary narrowing.

5. Hypoglossal nerve stimulation (HNS) involves an implantable device that will trigger the hypoglossal nerve to open the upper airways as a response to specific variations in respiration.

In summary, in recent decades, the average lifespan of individuals with DS has improved drastically. This improved longevity has contributed to an increased focus on quality of life. A heightened awareness of the pervasiveness of OSA in individuals with DS is critical for early recognition, effective management, and ultimately, optimization of long-term outcomes.